A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922



Internal ID9628776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57150948..57303398hg38UCSC Ensembl
Innerchr8:58063507..58215957hg19UCSC Ensembl
Innerchr8:58226061..58378511hg18UCSC Ensembl
Innerchr8:58226061..58378511hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38152451
hg19152451
hg18152451
hg17152451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758161
Supporting Variants
SamplesNA18605
Known GenesLINC00588, LOC100507651, LOC286177
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv6922
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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